Congenital Lateral Palatal Synechia Associated With Cleft Palate: A Case Report With Long-Term Follow-Up and Review of the Literature

Imai, Yoshimichi; Tachi, Masahiro

doi:10.1177/1055665619896687

Cited by 6 publications

(5 citation statements)

References 28 publications

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“…Cleft palate lateral synechiae syndrome is a rare condition, presumed to be inherited in an autosomal dominant manner 4. Infants with cleft palate lateral synechiae syndrome can have difficulty maintaining the airway.…”

Section: Discussionmentioning

confidence: 99%

Anaesthetic management of an infant with cleft palate lateral synechiae syndrome

Gayathri,

Venkatraman,

Murugan

et al. 2023

BMJ Case Rep

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An infant with restricted mouth opening from birth had presented for cleft lip repair. He had an interalveolar gap of 6 mm and was diagnosed as a case of cleft palate lateral synechiae syndrome. Fibreoptic bronchoscope of appropriate size was not available at the time of the procedure, and we had to device an alternative plan. The case describes the common challenges that can arise while anaesthetising infants with this syndrome in a resource-limited setting and highlights the importance of adapting the protocol to the demands.

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Section: Discussionmentioning

confidence: 99%

Anaesthetic management of an infant with cleft palate lateral synechiae syndrome

Gayathri,

Venkatraman,

Murugan

et al. 2023

BMJ Case Rep

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“…However, clinically and genetically we could exclude the most frequent monogenetic or copy-number variations associated with palatal and retinal anomalies and HSCR [6,7,15]. Congenital intraoral synechiae associated with an oral cleft are exceedingly rare, described as clinical conditions as cleft palate lateral synechiae (CPLS) syndrome or cleft palate and congenital alveolar synechia (AS) syndrome [14,16]. However, and association with HSCR without lower lip pits has not reported.…”

Section: Discussionmentioning

confidence: 99%

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

Schierz¹,

Cimador²,

Giuffrè³

et al. 2020

Ital J Pediatr

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Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono−/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. Case presentation We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biopsies were performed to diagnose aganglionosis of the colon and last ileal loop. No chromosomal anomalies or copy number variations were found. We identified a paternal heterozygous germline mutation c.1852 T > C, which results in the substitution of cysteine by arginine in the RET-receptor tyrosine kinase (p.C618R mutation). There was no family history of Hirschsprung disease, but the father underwent surgery for medullary thyroid carcinoma and was affected by retinal dystrophy. Conclusions The occurrence of Hirschsprung disease and carcinoma shows how a single mutation may be responsible for adverse effects: gain and loss of function of the same receptor. Furthermore, it would be interesting to study its dual role in face and retina embryology, and to extend targeted investigations of RET hotspots in these developmental abnormalities to facilitate counselling, follow-up, and tumor prevention. Complex surgical procedures and genetic testing as well as socio-economic impact are a challenge for familiar compliance.

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“…There is a nuance concerning the standard nomenclature. Lateral synechiae (LS) are defined as fibrous bands extending from the cleft edges to the lateral edges of the tongue or floor of oral cavity, whereas alveolar synechiae (AS) are defined as fibrous bands extending between the bi-maxillary alveolar processes [ 6 ]. The diagnosis of CPLSS in our case was based on the clinical findings: lateral synechiae in addition to facial abnormalities characteristic of the syndrome were identified.…”

Section: Discussionmentioning

confidence: 99%

“…Fryns syndrome [ 7 ], has been described as a “syndrome of multiple variable congenital abnormalities” [ 7 ], including CPLSS in its phenotypic spectrum [ 3 ], it comprises musculoskeletal and thoracic malformations. The phenotypic presentation in this case is characterized by AS and not LS [ 6 ]. Other syndromes have been reported; in the case of popliteal pterygium syndrome, the synechiae are AS.…”

Section: Discussionmentioning

confidence: 99%

Cleft palate-lateral synechiae syndrome: a case report

et al. 2022

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Cleft palate-lateral synechiae syndrome (CPLSS) is an extremely rare congenital malformation syndrome with undetermined etiology, characterized by a cleft palate and lateral intraoral synechiae linking the free borders of the palate to the mouth floor. We report a case of a female neonate, admitted for suckling difficulties with a cleft lip and palate associated to multiple lateral intraoral synechiae. Resection of the synechiae allowed oral feeding. Cleft palate-lateral synechiae syndrome is an exceptional syndrome as only seventeen cases have been reported in the literature. Synechiae can be isolated or more frequently in association with other congenital anomalies such as cleft lip and/or palate. These synechiae can cause functional deficits, especially in the respiratory and feeding tracts, language disorders or recurrent otitis. Although it is exceptional, this malformative entity must be known by medical practitioners in order to set up a well-adapted therapeutic protocol.

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Congenital Lateral Palatal Synechia Associated With Cleft Palate: A Case Report With Long-Term Follow-Up and Review of the Literature

Cited by 6 publications

References 28 publications

Anaesthetic management of an infant with cleft palate lateral synechiae syndrome

Anaesthetic management of an infant with cleft palate lateral synechiae syndrome

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

Cleft palate-lateral synechiae syndrome: a case report

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